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Hereditary Neuropathy - complex

Gene: PPOX

Green List (high evidence)
PPOX (protoporphyrinogen oxidase)
EnsemblGeneIds (GRCh38): ENSG00000143224
EnsemblGeneIds (GRCh37): ENSG00000143224
OMIM: 600923, Gene2Phenotype
PPOX is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants cause childhood onset disease.
Created: 27 Aug 2023, 7:19 a.m. | Last Modified: 27 Aug 2023, 7:19 a.m.
Panel Version: 1.0
Neuropathy is part of the phenotype.
Sources: NHS GMS
Created: 2 Apr 2020, 6:58 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Porphyria variegata, MIM# 176200; Variegate porphyria, childhood-onset, MIM# 620483

Publications

Created: 2 Apr 2020, 6:58 a.m.

Panel version: 1.0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Porphyria variegata, MIM# 176200
  • Variegate porphyria, childhood-onset, MIM# 620483
OMIM
600923
Clinvar variants
Variants in PPOX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPOX were changed from Porphyria variegata, MIM# 176200 to Porphyria variegata, MIM# 176200; Variegate porphyria, childhood-onset, MIM# 620483

27 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPOX were set to

27 Aug 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppox has been classified as Green List (High Evidence).

2 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppox has been classified as Green List (High Evidence).

2 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPOX was added gene: PPOX was added to Hereditary Neuropathy - complex. Sources: NHS GMS Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PPOX were set to Porphyria variegata, MIM# 176200 Review for gene: PPOX was set to GREEN